287 results on '"Nagel I"'
Search Results
152. Follow-up of probably benign lesions in non-screening breast diagnostics.
- Author
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Kapsimalakou S, Waldmann A, Katalinic A, Grande-Nagel I, Fischer D, Barkhausen J, and Vogt FM
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- Adult, Aged, Aged, 80 and over, Biopsy, Carcinoma in Situ diagnostic imaging, Carcinoma in Situ pathology, Carcinoma, Ductal, Breast diagnostic imaging, Carcinoma, Ductal, Breast pathology, Female, Humans, Lymph Nodes pathology, Middle Aged, Palpation, Ultrasonography, Mammary, Young Adult, Breast Neoplasms diagnostic imaging, Breast Neoplasms pathology, Continuity of Patient Care, Mammography
- Abstract
Purpose: Our study addresses at the benefit of surveillance of probably benign lesions, detected outside mammographic screening, during a 3-year period., Methods: 28,588 women (mean age 57 ± 12 years) were examined. Two independent radiologists read the mammogram as well as the supplemented ultrasound (in case of breast density ACR type 3 and 4). In the case of discordance a third expert considered whether further examination was indicated or not., Results: 3,266 diagnostic procedures ended with BI-RADS 3 result and 2,512 (76.9 %) women underwent a follow-up examination. 295 (11.7 %) of them received assessment examination (imaging and/or biopsy) and 37 (12.5 %) (none of them palpable) ended with BI-RADS 6. This equals a tumor detection rate of 14.7/1,000. The ratio in situ:invasive was 7:10 (1:1.43) and the mean size was 11.1 ± 4.51 mm. In the total cohort, 536 carcinomas ended with BI-RADS 6 of them 17 % were in situ and 83 % were invasive breast cancers (ratio in situ:invasive 1:4.99), mean size was 13.8 ± 6.3 mm. The cancer detection ratio in these cases was 18.7/1,000., Conclusions: The amount of detected tumors at follow-up of women with preceding BI-RADS 3 equates the associated potential of malignancy.
- Published
- 2014
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153. Peritoneal dissemination of a gastric API2-MALT1-positive MALT lymphoma.
- Author
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Krautz C, Kuithan F, Dobroschke J, Nagel I, Hartmann S, Aust DE, Baretton G, Weitz J, and Reissfelder C
- Subjects
- Humans, Lymphoma, B-Cell, Marginal Zone pathology, Peritoneal Neoplasms pathology, Stomach Neoplasms pathology
- Published
- 2014
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154. A familial disorder of altered DNA-methylation.
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Caliebe A, Richter J, Ammerpohl O, Kanber D, Beygo J, Bens S, Haake A, Jüttner E, Korn B, Mackay DJ, Martin-Subero JI, Nagel I, Sebire NJ, Seidmann L, Vater I, von Kaisenberg CS, Temple IK, Horsthemke B, Buiting K, and Siebert R
- Subjects
- Alleles, DNA Mutational Analysis, Epigenomics, Female, Humans, Infant, Newborn, Male, Pedigree, DNA Methylation genetics, Genetic Diseases, Inborn genetics
- Abstract
Background: In a subset of imprinting disorders caused by epimutations, multiple imprinted loci are affected. Familial occurrence of multilocus imprinting disorders is rare., Purpose/objective: We have investigated the clinical and molecular features of a familial DNA-methylation disorder., Methods: Tissues of affected individuals and blood samples of family members were investigated by conventional and molecular karyotyping. Sanger sequencing and RT-PCR of imprinting-associated genes (NLRP2, NLRP7, ZFP57, KHDC3L, DNMT1o), exome sequencing and locus-specific, array-based and genome-wide technologies to determine DNA-methylation were performed., Results: In three offspring of a healthy couple, we observed prenatal onset of severe growth retardation and dysmorphism associated with altered DNA-methylation at paternally and maternally imprinted loci. Array-based analyses in various tissues of the offspring identified the DNA-methylation of 2.1% of the genes in the genome to be recurrently altered. Despite significant enrichment of imprinted genes (OR 9.49), altered DNA-methylation predominately (90.2%) affected genes not known to be imprinted. Sequencing of genes known to cause comparable conditions and exome sequencing in affected individuals and their ancestors did not unambiguously point to a causative gene., Conclusions: The family presented herein suggests the existence of a familial disorder of DNA-methylation affecting imprinted but also not imprinted gene loci potentially caused by a maternal effect mutation in a hitherto not identified gene., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)
- Published
- 2014
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155. Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
- Author
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Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, and Foulkes WD
- Subjects
- Base Sequence, Cell Line, Tumor, Exome genetics, Female, Gene Components, Humans, Immunoblotting, Immunohistochemistry, In Situ Hybridization, Fluorescence, Molecular Sequence Data, Sequence Analysis, DNA, Carcinoma, Small Cell genetics, DNA Helicases genetics, Mutation genetics, Nuclear Proteins genetics, Ovarian Neoplasms genetics, Transcription Factors genetics
- Abstract
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated ovarian malignancy in women under 40 years of age. We sequenced the exomes of six individuals from three families with SCCOHT. After discovering segregating deleterious germline mutations in SMARCA4 in all three families, we tested DNA from a fourth affected family, which also carried a segregating SMARCA4 germline mutation. All the familial tumors sequenced harbored either a somatic mutation or loss of the wild-type allele. Immunohistochemical analysis of these cases and additional familial and non-familial cases showed loss of SMARCA4 (BRG1) protein in 38 of 40 tumors overall. Sequencing of cases with available DNA identified at least one germline or somatic deleterious SMARCA4 mutation in 30 of 32 cases. Additionally, the SCCOHT cell line BIN-67 had biallelic deleterious mutations in SMARCA4. Our findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches.
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- 2014
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156. Bilateral ganglioglioma of the trigeminal nerve in an 83-year-old man.
- Author
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Hargus G, Bink A, Nagel I, Paulus W, and Harder A
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- Aged, 80 and over, Brain pathology, Cranial Nerve Neoplasms genetics, Dementia etiology, Ganglioglioma genetics, Humans, Immunohistochemistry, Male, Trigeminal Nerve pathology, Trigeminal Nerve Diseases genetics, Cranial Nerve Neoplasms pathology, Ganglioglioma pathology, Trigeminal Nerve Diseases pathology
- Abstract
Gangliogliomas are well-differentiated, mixed glio-neuronal tumors of the CNS that are most frequently localized within the temporal lobe. In a minority of cases, gangliogliomas have been described in the brain stem where they may critically impinge anatomical structures. Rarely, ganglioglioma develop in cranial nerves, almost exclusively in the optic pathway, where they usually present as singular space-occupying masses. Here, we report on an 83-year-old patient who presented with unusual symmetrical, bilateral gangliogliomas of the trigeminal nerves. These tumors showed an exophytic growth within the subarachnoid space toward the Gasserian ganglion and surprisingly appeared as isointense masses on T1- and T2-weighted MRI. Due to their bilateral appearance, we performed array-comparative genomic hybridization (aCGH) on the gangliogliomas to address the possibility of an underlying tumor syndrome in this patient. To our knowledge, this is the first case of bilateral ganglioglioma of the trigeminal nerve described so far., (© 2013 Japanese Society of Neuropathology.)
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- 2014
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157. A recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma.
- Author
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Salaverria I, Martin-Guerrero I, Wagener R, Kreuz M, Kohler CW, Richter J, Pienkowska-Grela B, Adam P, Burkhardt B, Claviez A, Damm-Welk C, Drexler HG, Hummel M, Jaffe ES, Küppers R, Lefebvre C, Lisfeld J, Löffler M, Macleod RA, Nagel I, Oschlies I, Rosolowski M, Russell RB, Rymkiewicz G, Schindler D, Schlesner M, Scholtysik R, Schwaenen C, Spang R, Szczepanowski M, Trümper L, Vater I, Wessendorf S, Klapper W, and Siebert R
- Subjects
- Adolescent, Adult, Aged, Burkitt Lymphoma pathology, Cell Line, Child, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 8, Female, Gene Expression Regulation, Neoplastic, Humans, Male, Neoplasm Grading, Recurrence, Young Adult, B-Lymphocytes physiology, Burkitt Lymphoma classification, Burkitt Lymphoma genetics, Genes, myc genetics, Translocation, Genetic genetics
- Abstract
The genetic hallmark of Burkitt lymphoma (BL) is the t(8;14)(q24;q32) and its variants leading to activation of the MYC oncogene. It is a matter of debate whether true BL without MYC translocation exists. Here, we identified 59 lymphomas concordantly called BL by 2 gene expression classifiers among 753 B-cell lymphomas. Only 2 (3%) of these 59 molecular BL lacked a MYC translocation, which both shared a peculiar pattern of chromosome 11q aberration characterized by interstitial gains including 11q23.2-q23.3 and telomeric losses of 11q24.1-qter. We extended our analysis to 17 MYC-negative high-grade B-cell lymphomas with a similar 11q aberration and showed this aberration to be recurrently associated with morphologic and clinical features of BL. The minimal region of gain was defined by high-level amplifications in 11q23.3 and associated with overexpression of genes including PAFAH1B2 on a transcriptional and protein level. The recurrent region of loss contained a focal homozygous deletion in 11q24.2-q24.3 including the ETS1 gene, which was shown to be mutated in 4 of 16 investigated cases. These findings indicate the existence of a molecularly distinct subset of B-cell lymphomas reminiscent of BL, which is characterized by deregulation of genes in 11q.
- Published
- 2014
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158. Frequent triple-hit expression of MYC, BCL2, and BCL6 in primary lymphoma of the central nervous system and absence of a favorable MYC(low)BCL2 (low) subgroup may underlie the inferior prognosis as compared to systemic diffuse large B cell lymphomas.
- Author
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Brunn A, Nagel I, Montesinos-Rongen M, Klapper W, Vater I, Paulus W, Hans V, Blümcke I, Weis J, Siebert R, and Deckert M
- Subjects
- Biomarkers, Tumor, Gene Expression Regulation, Neoplastic genetics, Humans, Immunohistochemistry, Infant, Newborn, Prognosis, Central Nervous System Neoplasms genetics, Central Nervous System Neoplasms pathology, Genes, bcl-2 genetics, Genes, myc genetics, Lymphoma genetics, Lymphoma pathology, Lymphoma, Large B-Cell, Diffuse genetics, Lymphoma, Large B-Cell, Diffuse pathology, Proto-Oncogene Proteins c-bcl-6 genetics
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- 2013
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159. Microdeletion 5q14.3 and anomalies of brain development.
- Author
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Hotz A, Hellenbroich Y, Sperner J, Linder-Lucht M, Tacke U, Walter C, Caliebe A, Nagel I, Saunders DE, Wolff G, Martin P, and Morris-Rosendahl DJ
- Subjects
- Brain pathology, Child, Preschool, Comparative Genomic Hybridization, Facies, Humans, MEF2 Transcription Factors genetics, Magnetic Resonance Imaging, Male, Malformations of Cortical Development diagnosis, Chromosome Deletion, Chromosomes, Human, Pair 5, Malformations of Cortical Development genetics
- Abstract
5q14.3 deletions spanning and flanking MEF2C as well as intragenic MEF2C mutations have recently been described as a cause of severe intellectual disability, epilepsy, and muscular hypotonia, with variable brain and other anomalies. With an increasing number of patients described, the clinical presentation of the patients appears to be relatively uniform, however the structural brain phenotypes described are variable. We describe two unrelated patients with overlapping de novo interstitial deletions of 4.1 and 1.9 Mb, including MEF2C in 5q14.3, one of whom had a complex brain malformation which could be best described as microcephaly with simplified gyral pattern (MSG). Expression analysis in both patients confirmed haploinsufficiency for MEF2C, decreased MECP2 expression and increased C3ORF58 (DIA1) expression, which is a new finding. A detailed analysis of brain and white matter abnormalities reported in patients with 5q14.3 deletion syndrome to date revealed a greater number of reported abnormalities in patients with deletions not including MEF2C than those with deletions or mutations directly affecting MEF2C. Screening an additional 43 patients with malformations of cerebral cortical development (MCD) for mutations in MEF2C and/or deletions in 5q14.3q15, did not detect any additional mutations, allowing us to conclude that 5q14.3 deletion syndrome is a rare cause of microcephaly with simplified gyral pattern., (Copyright © 2013 Wiley Periodicals, Inc.)
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- 2013
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160. Primary adenocarcinoma of the thymus: an immunohistochemical and molecular study with review of the literature.
- Author
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Maghbool M, Ramzi M, Nagel I, Bejarano P, Siebert R, Saeedzadeh A, and Daneshbod Y
- Abstract
Background: Primary adenocarcinoma of thymus is extremely rare., Case Presentation: This is a case of primary adenocarcinoma with intestinal differentiation and focal mucin production in the thymus. Thymic cyst was associated with this tumor. Intestinal differentiation was confirmed by immunohistochemical stain with positivity for CDX-2, CK20, villin, MOC31 and focal positivity of CK7. Array comperative genomic hybridization (CGH) analysis showed a complex pattern of chromosomal imbalances including homozygous deletion at the HLA locus in chromosomal region 6p21.32., Conclusion: This rare tumor shows a similar genetic aberration with other studied thymic epithelial tumors.
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- 2013
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161. X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.
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Westenberger A, Rosales RL, Heinitz S, Freimann K, Lee LV, Jamora RD, Ng AR, Domingo A, Lohmann K, Walter U, Gölnitz U, Rolfs A, Nagel I, Gillessen-Kaesbach G, Siebert R, Dressler D, and Klein C
- Subjects
- Chromosomes, Human, X, Dystonic Disorders, Female, Genetic Diseases, X-Linked, Genetic Testing, Histone Acetyltransferases genetics, Humans, Middle Aged, TATA-Binding Protein Associated Factors genetics, Transcription Factor TFIID genetics, Turner Syndrome complications, Turner Syndrome genetics
- Abstract
Background: Recessive X-linked dystonia-parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient., Methods: We confirmed the presence of an X-linked dystonia-parkinsonism-specific change in our patient by sequencing. In addition, we employed quantitative real-time PCR and array comparative genomic hybridization to determine the patient's X-chromosome copy number., Results: The patient's sequence electropherogram suggested a higher amount of the mutated allele compared with the wild-type allele. Subsequently, extensive gene dosage analyses revealed a copy number of the X chromosomes between 1 and 2, indicating loss of 1 X chromosome in a subset of cells. Phenotypic reevaluation of the patient showed several clinical features of Turner syndrome., Conclusions: Our female X-linked dystonia-parkinsonism patient suffered from an undiagnosed X-chromosome monosomy in a subset of cells (45,X/46,XX), suggesting an atypical Turner syndrome and contributing the first molecular explanation for the manifestation of an X-linked dystonia-parkinsonism phenotype in women. © 2013 Movement Disorder Society., (Copyright © 2013 Movement Disorder Society.)
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- 2013
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162. High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors.
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Hasselblatt M, Isken S, Linge A, Eikmeier K, Jeibmann A, Oyen F, Nagel I, Richter J, Bartelheim K, Kordes U, Schneppenheim R, Frühwald M, Siebert R, and Paulus W
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- Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 22 genetics, DNA Copy Number Variations, DNA Mutational Analysis, Female, Gene Deletion, Genome-Wide Association Study, Genotype, Humans, In Situ Hybridization, Fluorescence, Infant, Infant, Newborn, Loss of Heterozygosity, Male, Multiplex Polymerase Chain Reaction, Polymorphism, Single Nucleotide, SMARCB1 Protein, Chromosomal Proteins, Non-Histone genetics, DNA-Binding Proteins genetics, Mutation, Rhabdoid Tumor genetics, Transcription Factors genetics
- Abstract
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare malignant pediatric brain tumor characterized by genetic alterations affecting the SMARCB1 (hSNF5/INI1) locus in chromosome band 22q11.2. To identify potential additional genetic alterations, high-resolution genome-wide analysis was performed using a molecular inversion probe single-nucleotide polymorphism (MIP SNP) assay (Affymetrix OncoScan formalin-fixed paraffin-embedded express) on DNA isolated from 18 formalin-fixed paraffin-embedded archival samples. Alterations affecting the SMARCB1 locus could be demonstrated by MIP SNP in 15 out of 16 evaluable cases (94%). These comprised five tumors with homozygous deletions, six tumors with heterozygous deletions, and four tumors with copy number neutral loss of heterozygosity (LOH) involving chromosome band 22q11.2. Remarkably, MIB SNP analysis did not yield any further recurrent chromosomal gains, losses, or copy neutral LOH. On MIP SNP screening for somatic mutations, the presence of a SMARCB1 mutation (c.472C>T p.R158X) was confirmed, but no recurrent mutations of other cancer relevant genes could be identified. Results of fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, and SMARCB1 sequencing were highly congruent with that of the MIP SNP assay. In conclusion, these data further suggest the absence of recurrent genomic alterations other than SMARCB1 in AT/RT., (Copyright © 2012 Wiley Periodicals, Inc.)
- Published
- 2013
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163. Recurrent deletions of the TNFSF7 and TNFSF9 genes in 19p13.3 in diffuse large B-cell and Burkitt lymphomas.
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Scholtysik R, Nagel I, Kreuz M, Vater I, Giefing M, Schwaenen C, Wessendorf S, Trümper L, Loeffler M, Siebert R, and Küppers R
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- Aged, Aged, 80 and over, Child, Child, Preschool, Chromosome Mapping, Comparative Genomic Hybridization, DNA, Neoplasm genetics, Female, Gene Expression Regulation, Neoplastic, Humans, In Situ Hybridization, Fluorescence, Male, Middle Aged, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, 4-1BB Ligand genetics, Burkitt Lymphoma genetics, CD27 Ligand genetics, Chromosomes, Human, Pair 19 genetics, Gene Deletion, Lymphoma, Large B-Cell, Diffuse genetics
- Abstract
A single nucleotide polymorphism-chip analysis of 98 cases of aggressive B-cell lymphomas revealed a recurrent deletion at 19p13 in nine of the cases. Six further cases with deletions encompassing this region were found in array-comparative genomic hybridization data of 295 aggressive B-cell lymphomas from a previous study. Three cases even showed a homozygous deletion, suggesting a tumor suppressor gene in the deleted region. Two genes encoding members of the tumor necrosis factor superfamily (TNFSF) were located in the minimally deleted region, that is, TNFSF7 and TNFSF9. As no mutations were found within the coding exons of the remaining alleles in the lymphomas with heterozygous deletions, we speculate that the deletions may mostly function through a haploinsufficiency mechanism. The cases with deletions encompassed both diffuse large B-cell lymphomas and Burkitt lymphomas, and a deletion was also found in a Hodgkin lymphoma cell line. Thus, TNFSF7 and TNFSF9 deletions are recurrent genetic lesions in multiple types of human lymphomas., (Copyright © 2011 UICC.)
- Published
- 2012
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164. Benefits of the quality assured double and arbitration reading of mammograms in the early diagnosis of breast cancer in symptomatic women.
- Author
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Waldmann A, Kapsimalakou S, Katalinic A, Grande-Nagel I, Stoeckelhuber BM, Fischer D, Barkhausen J, and Vogt FM
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- Breast Neoplasms prevention & control, Female, Germany epidemiology, Humans, Mass Screening standards, Mass Screening statistics & numerical data, Middle Aged, Practice Guidelines as Topic, Prevalence, Quality Assurance, Health Care methods, Reproducibility of Results, Risk Assessment statistics & numerical data, Sensitivity and Specificity, Breast Neoplasms diagnostic imaging, Breast Neoplasms epidemiology, Early Detection of Cancer standards, Early Detection of Cancer statistics & numerical data, Mammography standards, Mammography statistics & numerical data, Quality Assurance, Health Care standards
- Abstract
Objectives: To address the benefits of double and arbitration reading regarding tumour detection rates, percentage of in situ tumours, and number (of patients) needed to send for expert reading (number needed to treat; NNT) for one additional tumour finding., Methods: QuaMaDi is a quality assured breast cancer diagnosis programme; with two-view mammography (craniocaudal, mediolateral oblique) and, in case of breast density ACR 3 or 4, routine ultrasound imaging; and with independent double reading of all images. A consecutive sample of symptomatic women, i.e. women at risk for breast cancer, women aged 70 and above, and/or women with preceding BI-RADS III findings, was analysed., Results: 28,558 mammograms were performed (mean age of women: 57.3 [standard deviation: 12.3] years). Discordant findings were present in 3,837 double readings and were sent for arbitration reading. After histopathological assessment, 52 carcinomas were found (thereof 32% in situ). These carcinomas accounted for 1.8 tumours per 1,000 examinations in the total cohort and increased the tumour detection rate up to 16.4/1,000. The NNT in discordant cases was 74., Conclusion: Double and arbitration reading appears to be a useful tool to ensure the quality of early detection of breast lesions in symptomatic women during indication-based, standardised mammography., Key Points: • Quality assured breast cancer diagnosis is feasible outside organised screening structures. • Double and arbitration reading is beneficial for populations ineligible for screening. • Double and arbitration reading increases the tumour detection rate. • Double and arbitration reading increases the percentage of in situ cancers.
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- 2012
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165. [Structure and process quality of quality-assured mamma diagnostics in Schleswig-Holstein].
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Waldmann A, Adrich S, Eisemann N, Fauteck H, Grande-Nagel I, Schaefer FK, Vorkefeld M, Warnecke C, Weidner K, Wilke C, and Katalinic A
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- Adult, Aged, Early Diagnosis, Female, Guideline Adherence standards, Humans, Middle Aged, Quality Indicators, Health Care, Sensitivity and Specificity, Ultrasonography, Mammary standards, Young Adult, Breast Neoplasms diagnostic imaging, Mammography standards, Mass Screening, Quality Assurance, Health Care standards
- Abstract
Purpose: To demonstrate the structure and process quality of quality-assured mamma diagnostics (QuaMaDi) by means of quality indicators as defined in the European Guidelines for Quality Assurance in Breast Cancer Screening and Diagnosis and in the National Guideline on Early Detection of Cancer in Germany. Furthermore, spatial differences and changes in the chronological sequence were analyzed., Materials and Methods: We used administrative data as documented in the time period 2006 - 2009 in QuaMaDi in Schleswig-Holstein (SH), Germany, and analyzed quality indicators as defined in the abovementioned guidelines (absolute and relative frequencies, 95 % confidence intervals)., Results: Each year approximately 6 % of all women age 20 or older living in SH are examined using QuaMaDi. Only minor differences regarding age and clinical data were seen between the patients in the four regions of SH. Reference values for the quality indicators are largely reached (i. e., proportion of women with breast density ACR 3 or 4 plus additional ultrasound = 96.2 %; proportion with repeated mammography = 0.2 %). Spatial differences are only minor. In the chronological sequence, quality indicators improve, if they did not reach the reference values in the beginning, or indicate a high and constant quality., Conclusion: With regard to those quality indicators that were computable, reference values as defined in the guidelines were reached in 9 of 12 cases. In one case the difference between the observed value and the reference values is system-immanent and in another case the difference is less than four percentage points (reference value 90 %)., (© Georg Thieme Verlag KG Stuttgart · New York.)
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- 2012
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166. CSF cytology--the ongoing dilemma to distinguish neoplastic and inflammatory lymphocytes.
- Author
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Perske C, Nagel I, Nagel H, and Strik H
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- Cell Nucleus Shape, Cell Nucleus Size, Cell Shape, Cell Size, Central Nervous System Infections cerebrospinal fluid, Central Nervous System Infections diagnosis, Central Nervous System Infections pathology, Chromatin metabolism, Cryptococcosis cerebrospinal fluid, Cryptococcosis diagnosis, Cryptococcosis pathology, Diagnosis, Differential, Humans, Inflammation pathology, Lymphoma, Non-Hodgkin pathology, Mitosis, Multiple Sclerosis cerebrospinal fluid, Multiple Sclerosis diagnosis, Multiple Sclerosis pathology, Whipple Disease cerebrospinal fluid, Whipple Disease diagnosis, Whipple Disease pathology, B-Lymphocytes pathology, Inflammation cerebrospinal fluid, Inflammation diagnosis, Lymphoma, Non-Hodgkin cerebrospinal fluid, Lymphoma, Non-Hodgkin diagnosis
- Abstract
To evaluate different morphological criteria for the distinction between inflammatory and neoplastic lymphocytes in the cerebrospinal fluid (CSF). Forty-two cytospin preparations of CSF from patients with confirmed CSF involvement by aggressive B-cell lymphoma or acute leukemia were compared with 26 samples of inflammatory diseases. CSF cytology was analyzed morphologically for preselected parameters of cell, cytoplasm and nucleic appearance, and the presence of mitoses or apoptoses. None of the evaluated parameters sharply discerns neoplastic and inflammatory changes. However, neoplastic cells were significantly larger. Moreover, irregular shape and pointed borders of the cytoplasm, and deep notches in the nucleus were significantly more frequent in neoplastic than in inflammatory lymphocytes. No single parameter is sufficient to detect neoplastic lymphocytes. Considering a combination of cell size and irregular shape of cell and nucleus, however, may improve the diagnostic accuracy of CSF dissemination by aggressive hematological malignancies., (Copyright © 2010 Wiley-Liss, Inc.)
- Published
- 2011
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167. A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.
- Author
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Weichert J, Schröer A, Amari F, Siebert R, Caliebe A, Nagel I, Gillessen-Kaesbach G, Mohrmann I, and Hellenbroich Y
- Subjects
- Abnormalities, Multiple diagnosis, Arrhythmias, Cardiac diagnosis, Chromosome Mapping, Family Health, Female, Fetal Diseases diagnosis, Gene Deletion, Genetic Diseases, X-Linked, Genotype, Gigantism diagnosis, Heart Defects, Congenital diagnosis, Humans, Intellectual Disability diagnosis, Male, Pedigree, Pregnancy, Prenatal Diagnosis, Abnormalities, Multiple genetics, Chromosome Deletion, Chromosomes, Human, X genetics, Fetal Diseases genetics, Glypicans genetics
- Abstract
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, congenital heart defects and genitourinary anomalies. There is little published information regarding the prenatal presentation of SGBS in pregnancy. In the present report we describe the antenatal features of an affected fetus from 12 gestational weeks onwards, subsequently diagnosed with SGBS by molecular testing positive for GPC3 gene mutation., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)
- Published
- 2011
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168. Breast abscess following nipple piercing: a case report and review of the literature.
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Kapsimalakou S, Grande-Nagel I, Simon M, Fischer D, Thill M, and Stöckelhuber BM
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- Abscess diagnostic imaging, Breast Diseases diagnostic imaging, Diagnosis, Differential, Female, Humans, Ultrasonography, Young Adult, Abscess etiology, Body Piercing adverse effects, Breast Diseases etiology
- Abstract
Background: Nipple piercing gains popularity and social acceptance within the last years, especially among young people. The medical literature reports an increase of complications in the post-piercing period., Case Report: We report a case of a young woman, who presented with a light enlargement of the right breast and tenderness in the retroareolar region following nipple piercing 5 months ago. On ultrasound, a poorly marginated hypoechoic lesion was seen which was suspicious of an inflammation. After 1 week of antibiotic therapy, the mass had enlarged. As carcinoma could not be excluded, open biopsy was performed. Histology showed signs of chronic mastitis., Conclusion: To date, only a few reports of breast abscess after nipple piercing have been published. With the increasing prevalence of body piercing, it is important to document and report infections which may be discovered many months following piercing. Carcinoma can mimic breast abscess and should be included in the differential diagnosis.
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- 2010
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169. Prenatal presentation of a metastasizing rhabdoid tumor with homozygous deletion of the SMARCB1 gene.
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Negahban S, Nagel I, Soleimanpour H, Aledavood A, Bagheri N, Paydar M, Daneshbod K, Hasselblatt M, Gesk S, Siebert R, and Daneshbod Y
- Subjects
- Adult, Female, Fetal Diseases genetics, Humans, Neoplasm Metastasis, Pregnancy, Rhabdoid Tumor genetics, SMARCB1 Protein, Ultrasonography, Prenatal, Chromosomal Proteins, Non-Histone genetics, DNA-Binding Proteins genetics, Fetal Diseases pathology, Gene Deletion, Rhabdoid Tumor pathology, Transcription Factors genetics
- Published
- 2010
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170. Deregulation of the telomerase reverse transcriptase (TERT) gene by chromosomal translocations in B-cell malignancies.
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Nagel I, Szczepanowski M, Martín-Subero JI, Harder L, Akasaka T, Ammerpohl O, Callet-Bauchu E, Gascoyne RD, Gesk S, Horsman D, Klapper W, Majid A, Martinez-Climent JA, Stilgenbauer S, Tönnies H, Dyer MJ, and Siebert R
- Subjects
- Adult, Aged, Aged, 80 and over, Biomarkers, Tumor genetics, Biomarkers, Tumor metabolism, Child, Female, Gene Expression Profiling, Humans, In Situ Hybridization, Fluorescence, Leukemia, B-Cell pathology, Lymphoma, B-Cell pathology, Male, Middle Aged, Oligonucleotide Array Sequence Analysis, Telomerase metabolism, Leukemia, B-Cell genetics, Lymphoma, B-Cell genetics, Telomerase genetics, Translocation, Genetic
- Abstract
Sequence variants at the TERT-CLPTM1L locus in chromosome 5p have been recently associated with disposition for various cancers. Here we show that this locus including the gene encoding the telomerase reverse-transcriptase TERT at 5p13.33 is rarely but recurrently targeted by somatic chromosomal translocations to IGH and non-IG loci in B-cell neoplasms, including acute lymphoblastic leukemia, chronic lymphocytic leukemia, mantle cell lymphoma and splenic marginal zone lymphoma. In addition, cases with genomic amplification of TERT locus were identified. Tumors bearing chromosomal aberrations involving TERT showed higher TERT transcriptional expression and increased telomerase activity. These data suggest that deregulation of TERT gene by chromosomal abnormalities leading to increased telomerase activity might contribute to B-cell lymphomagenesis.
- Published
- 2010
- Full Text
- View/download PDF
171. Immunoglobulin heavy chain locus chromosomal translocations in B-cell precursor acute lymphoblastic leukemia: rare clinical curios or potent genetic drivers?
- Author
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Dyer MJ, Akasaka T, Capasso M, Dusanjh P, Lee YF, Karran EL, Nagel I, Vater I, Cario G, and Siebert R
- Subjects
- Acute Disease, Animals, Cell Transformation, Neoplastic genetics, Core Binding Factor Alpha 2 Subunit biosynthesis, Core Binding Factor Alpha 2 Subunit genetics, Gene Expression Regulation, Leukemic genetics, Hematopoiesis genetics, Humans, Immunoglobulin Heavy Chains genetics, Inhibitor of Differentiation Proteins biosynthesis, Inhibitor of Differentiation Proteins genetics, Oncogene Proteins, Fusion biosynthesis, Oncogene Proteins, Fusion genetics, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma diagnosis, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma genetics, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma therapy, Prognosis, Receptors, Cytokine biosynthesis, Receptors, Cytokine genetics, Receptors, Erythropoietin biosynthesis, Receptors, Erythropoietin genetics, B-Lymphocytes metabolism, Cell Transformation, Neoplastic metabolism, Immunoglobulin Heavy Chains metabolism, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma metabolism, Quantitative Trait Loci, Translocation, Genetic
- Abstract
Chromosomal translocations involving the immunoglobulin heavy chain (IGH) locus define common subgroups of B-cell lymphoma but are rare in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Recent fluorescent in situ hybridization and molecular cloning studies have identified several novel IGH translocations involving genes that play important roles in normal hemopoiesis, including the cytokine receptor genes CRLF2 and EPOR, all members of the CCAAT enhancer-binding protein gene family, as well as genes not normally expressed in hemopoietic cells including inhibitor of DNA binding 4. IGH translocation results in deregulated target gene expression because of juxtaposition with IGH transcriptional enhancers. However, many genes targeted by IGH translocations are also more commonly deregulated in BCP-ALL as a consequence of other genetic or epigenetic mechanisms. For example, interstitial genomic deletions also result in deregulated CRLF2 expression, whereas EPOR expression is deregulated as a consequence of the ETV6-RUNX1 fusion. The possible clinical importance of many of the various IGH translocations in BCP-ALL remains to be determined from prospective studies, but CRLF2 expression is associated with a poor prognosis. Despite their rarity, IGH chromosomal translocations in BCP-ALL therefore define not only new mechanisms of B-cell transformation but also clinically important subgroups of disease and suggest new targeted therapeutic approaches.
- Published
- 2010
- Full Text
- View/download PDF
172. A comprehensive microarray-based DNA methylation study of 367 hematological neoplasms.
- Author
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Martin-Subero JI, Ammerpohl O, Bibikova M, Wickham-Garcia E, Agirre X, Alvarez S, Brüggemann M, Bug S, Calasanz MJ, Deckert M, Dreyling M, Du MQ, Dürig J, Dyer MJ, Fan JB, Gesk S, Hansmann ML, Harder L, Hartmann S, Klapper W, Küppers R, Montesinos-Rongen M, Nagel I, Pott C, Richter J, Román-Gómez J, Seifert M, Stein H, Suela J, Trümper L, Vater I, Prosper F, Haferlach C, Cruz Cigudosa J, and Siebert R
- Subjects
- B-Lymphocytes metabolism, Cluster Analysis, CpG Islands, Gene Expression Profiling, Humans, Promoter Regions, Genetic, T-Lymphocytes metabolism, DNA Methylation, Hematologic Neoplasms genetics, Hematologic Neoplasms metabolism, Oligonucleotide Array Sequence Analysis methods
- Abstract
Background: Alterations in the DNA methylation pattern are a hallmark of leukemias and lymphomas. However, most epigenetic studies in hematologic neoplasms (HNs) have focused either on the analysis of few candidate genes or many genes and few HN entities, and comprehensive studies are required., Methodology/principal Findings: Here, we report for the first time a microarray-based DNA methylation study of 767 genes in 367 HNs diagnosed with 16 of the most representative B-cell (n = 203), T-cell (n = 30), and myeloid (n = 134) neoplasias, as well as 37 samples from different cell types of the hematopoietic system. Using appropriate controls of B-, T-, or myeloid cellular origin, we identified a total of 220 genes hypermethylated in at least one HN entity. In general, promoter hypermethylation was more frequent in lymphoid malignancies than in myeloid malignancies, being germinal center mature B-cell lymphomas as well as B and T precursor lymphoid neoplasias those entities with highest frequency of gene-associated DNA hypermethylation. We also observed a significant correlation between the number of hypermethylated and hypomethylated genes in several mature B-cell neoplasias, but not in precursor B- and T-cell leukemias. Most of the genes becoming hypermethylated contained promoters with high CpG content, and a significant fraction of them are targets of the polycomb repressor complex. Interestingly, T-cell prolymphocytic leukemias show low levels of DNA hypermethylation and a comparatively large number of hypomethylated genes, many of them showing an increased gene expression., Conclusions/significance: We have characterized the DNA methylation profile of a wide range of different HNs entities. As well as identifying genes showing aberrant DNA methylation in certain HN subtypes, we also detected six genes--DBC1, DIO3, FZD9, HS3ST2, MOS, and MYOD1--that were significantly hypermethylated in B-cell, T-cell, and myeloid malignancies. These might therefore play an important role in the development of different HNs.
- Published
- 2009
- Full Text
- View/download PDF
173. Automated cerebrospinal fluid cytology.
- Author
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Heller T, Nagel I, Ehrlich B, Bähr M, and Strik H
- Subjects
- Blood Cell Count instrumentation, Blood Cell Count methods, Flow Cytometry methods, Humans, Microscopy methods, Reproducibility of Results, Cerebrospinal Fluid cytology, Flow Cytometry instrumentation
- Abstract
Objective: To evaluate the Abbott CELL-DYN Sapphire cytometer for cerebrospinal fluid (CSF) cell count and differentiation., Methods: One hundred three analyses of CSF cells by the CELL-DYN Sapphire were compared with routine cell count and microscopic differentiation and correlation coefficients calculated., Results: The total cell count of both methods correlated well. The detection of erythrocytes was good (0.898), and a higher content of erythrocytes >100/microL had little effect on total leukocyte count. The correlation between both methods was best with higher leukocyte counts >25/microL (r=0.987), whereas at cell counts <25/microL, the correlation was considerably less precise (r=0.613). For the differentiation of cells, lymphocytes and neutrophils showed moderate correlation. The results for monocytes and eosinophils did not correlate., Conclusion: The results for the total cell count in this study are comparable with those achieved with the Bayer Advia 120. While the Abbott CELL-DYN Sapphire yielded slightly better results for erythrocytes and total cell count with a higher erythrocyte content, the Advia 120 achieved slightly better results of lymphocyte and neutrophil count in a previous study.
- Published
- 2008
174. t(6;14)(p22;q32): a new recurrent IGH@ translocation involving ID4 in B-cell precursor acute lymphoblastic leukemia (BCP-ALL).
- Author
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Russell LJ, Akasaka T, Majid A, Sugimoto KJ, Loraine Karran E, Nagel I, Harder L, Claviez A, Gesk S, Moorman AV, Ross F, Mazzullo H, Strefford JC, Siebert R, Dyer MJ, and Harrison CJ
- Subjects
- Adolescent, Adult, Base Sequence, Child, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 6, Chromosomes, Human, Pair 9, Female, Gene Deletion, Genes, p16, Humans, In Situ Hybridization, Fluorescence, Male, Middle Aged, Molecular Sequence Data, PAX5 Transcription Factor genetics, Reverse Transcriptase Polymerase Chain Reaction, Immunoglobulin Heavy Chains genetics, Inhibitor of Differentiation Proteins genetics, Leukemia, B-Cell genetics, Precursor Cell Lymphoblastic Leukemia-Lymphoma genetics, Translocation, Genetic
- Abstract
Translocations involving the immunoglobulin heavy chain locus (IGH@) at chromosome band 14q32 are common in mature B-cell neoplasms, but are rare in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Here, we report the translocation, t(6;14)(p22;q32), involving IGH@ as a novel recurrent translocation in 13 BCP-ALL patients. Fluorescence in situ hybridization and long-distance inverse polymerase chain reaction (PCR) identified ID4 as the partner gene. Breakpoints were scattered over a 19kb region centromeric of ID4. Quantitative real-time PCR showed up-regulation of ID4 mRNA. All patients had deletions of CDKN2A and PAX5 located on the short arm of chromosome 9, frequently as a result of an isochromosome, i(9)(q10) (9/13, 69%). This study defines a new subgroup of BCP-ALL characterized by ID4 over-expression and CDKN2A and PAX5 deletions. Preliminary survival data suggest that this subgroup may be associated with a good response to therapy.
- Published
- 2008
- Full Text
- View/download PDF
175. Aberrant immunoglobulin class switch recombination and switch translocations in activated B cell-like diffuse large B cell lymphoma.
- Author
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Lenz G, Nagel I, Siebert R, Roschke AV, Sanger W, Wright GW, Dave SS, Tan B, Zhao H, Rosenwald A, Muller-Hermelink HK, Gascoyne RD, Campo E, Jaffe ES, Smeland EB, Fisher RI, Kuehl WM, Chan WC, and Staudt LM
- Subjects
- Cell Line, Tumor, Humans, Immunoglobulin Class Switching genetics, Lymphoma, B-Cell genetics, Lymphoma, B-Cell, Marginal Zone genetics, Lymphoma, B-Cell, Marginal Zone immunology, Lymphoma, Large B-Cell, Diffuse genetics, Tumor Cells, Cultured, Immunoglobulin Class Switching immunology, Lymphocyte Activation genetics, Lymphoma, B-Cell immunology, Lymphoma, Large B-Cell, Diffuse immunology, Recombination, Genetic, Translocation, Genetic
- Abstract
To elucidate the mechanisms underlying chromosomal translocations in diffuse large B cell lymphoma (DLBCL), we investigated the nature and extent of immunoglobulin class switch recombination (CSR) in these tumors. We used Southern blotting to detect legitimate and illegitimate CSR events in tumor samples of the activated B cell-like (ABC), germinal center B cell-like (GCB), and primary mediastinal B cell lymphoma (PMBL) subgroups of DLBCL. The frequency of legitimate CSR was lower in ABC DLBCL than in GCB DLBCL and PMBL. In contrast, ABC DLBCL had a higher frequency of internal deletions within the switch mu (Smu) region compared with GCB DLBCL and PMBL. ABC DLBCLs also had frequent deletions within Sgamma and other illegitimate switch recombinations. Sequence analysis revealed ongoing Smu deletions within ABC DLBCL tumor clones, which were accompanied by ongoing duplications and activation-induced cytidine deaminase-dependent somatic mutations. Unexpectedly, short fragments derived from multiple chromosomes were interspersed within Smu in one case. These findings suggest that ABC DLBCLs have abnormalities in the regulation of CSR that could predispose to chromosomal translocations. Accordingly, aberrant switch recombination was responsible for translocations in ABC DLBCLs involving BCL6, MYC, and a novel translocation partner, SPIB.
- Published
- 2007
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176. A chromosomal translocation in cyclin D1-negative/cyclin D2-positive mantle cell lymphoma fuses the CCND2 gene to the IGK locus.
- Author
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Gesk S, Klapper W, Martín-Subero JI, Nagel I, Harder L, Fu K, Bernd HW, Weisenburger DD, Parwaresch R, and Siebert R
- Subjects
- Adult, Aged, Cyclin D1, Cyclin D2, Cyclins genetics, Female, Humans, Immunoglobulins genetics, Lymphoma, Mantle-Cell pathology, Male, Oncogene Proteins, Fusion genetics, Lymphoma, Mantle-Cell genetics, Translocation, Genetic
- Published
- 2006
- Full Text
- View/download PDF
177. Automated cerebrospinal fluid cytology: limitations and reasonable applications.
- Author
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Strik H, Luthe H, Nagel I, Ehrlich B, and Bahr M
- Subjects
- Cell Count instrumentation, Cell Count methods, Central Nervous System pathology, Erythrocytes cytology, False Negative Reactions, False Positive Reactions, Female, Flow Cytometry methods, Granulocytes cytology, Humans, Leukocyte Count, Linear Models, Lymphocytes cytology, Lymphoma cerebrospinal fluid, Lymphoma pathology, Monocytes cytology, Plasmacytoma cerebrospinal fluid, Plasmacytoma pathology, Pneumococcal Infections cerebrospinal fluid, Pneumococcal Infections pathology, Sensitivity and Specificity, Software, Cerebrospinal Fluid cytology, Flow Cytometry instrumentation
- Abstract
Objective: To evaluate the precision and clinical applicability of the Bayer ADVIA 120 cytometer (Bayer Healthcare, Fernwald, Germany) for cerebrospinal fluid (CSF) cell count and differentiation., Study Design: One hundred six analyses of CSF from 98 patients by the ADVIA 120 were compared with routine cell count and microscopic differentiation. Correlation coefficients were calculated., Results: In general, the total cell counts of both methods correlated well. The best correlations were seen at higher cell counts, > or = 100 cells per microliter with < 100 erythrocytes per microliter. The best correlations of cell differentiation were seen for lymphocytes and neutrophils, while the results for monocytes and eosinophils were less precise. In some cases, considerable differences between automated and microscopic cell counts and differentiation were seen that were relevant to clinical decision making. The detection of pathologic cell types, such as hemosiderophages, mitoses and neoplastic cells, was not provided by automated cytometry., Conclusion: When experienced personnel are not available, a preliminary cell count and differentiation between neutrophilic and lymphocytic reactions by automated cytometry may be valuable in allowing initial therapeutic decision making. Since the detection of pathologic cell types is not provided and the precision at low cell counts is only moderate, a personal microscopic evaluation of each sample is still indispensable to avoid misdiagnoses.
- Published
- 2005
178. An in vitro study to evaluate the accuracy of stereotactic localization using magnetic resonance imaging by means of the Leksell stereotactic system.
- Author
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Gliemroth J, Gaebel C, Kehler U, Grande-Nagel I, Missler U, and Arnold H
- Subjects
- Brain anatomy & histology, Humans, In Vitro Techniques, Models, Anatomic, Reproducibility of Results, Surgery, Computer-Assisted methods, Brain surgery, Magnetic Resonance Imaging methods, Stereotaxic Techniques instrumentation
- Abstract
The advantages of using magnetic resonance imaging (MRI) as opposed to computed tomographic (CT) scans or ventriculography in stereotactic surgery include the increased tissue contrast of the lesion or target, direct non-reformatted multiplanar imaging and target coordinate determination as well as reduced imaging artefacts produced by the stereotactic frame. One disadvantage of MR stereotaxis, however, is the potential for anatomic inaccuracy due to equipment-induced inhomogeneities of the magnetic field. The authors present an experimental study on an in vitro model to examine the accuracy of target localization using the Leksell stereotactic frame and MR imaging. Ten formalin-fixed brains taken from patients who had died of non-neurological diseases were sealed in a properly modelled plaster-cast shell simulating the skull bone. These models were fixed in the Leksell stereotactic frame and high-field MR images were performed (Siemens Magnetom SP 1.5 Tesla, T1-weighted spin echo sequences, TR/TE 600/15 ms, slice thickness 2 mm, FOV 300 mm). Following electrocoagulation of different targets on both lentiforme nuclei, the localization and extension of the lesions were controlled by MRI. A gross-/histopathological verification was performed. This model allows a good representation of the anatomic structures without any artefacts. The postoperative MRI control and the pathological examination of the lesions matched well with the preoperatively defined targets. The correlation of coordinates and measurements obtained with the pathological studies were within a +/- 2 mm range in all cases.
- Published
- 2002
- Full Text
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179. [MR tomographic and clinical course of intracochlear acoustic neurinoma].
- Author
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Grande-Nagel I, Mayer TE, Heide W, Kömpf D, and Weiss HD
- Subjects
- Diagnosis, Differential, Follow-Up Studies, Humans, Labyrinthitis diagnosis, Male, Middle Aged, Time Factors, Cochlear Diseases diagnosis, Ear Neoplasms diagnosis, Magnetic Resonance Imaging, Neuroma, Acoustic diagnosis
- Published
- 1997
- Full Text
- View/download PDF
180. [Use of a laser-guided device for CT-controlled biopsies and nerve blocks].
- Author
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Zwaan M, Frahm C, Kloess W, Preuss S, Baumeier W, Grande-Nagel I, Gehl HB, and Weiss HD
- Subjects
- Equipment Design, Humans, Needles, Biopsy, Needle instrumentation, Lasers, Nerve Block instrumentation, Tomography, X-Ray Computed instrumentation
- Published
- 1996
181. Aldosterone regulates paracellular pathway resistance in rabbit distal colon.
- Author
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Hoffmann B, Nagel I, and Clauss W
- Subjects
- Animals, Colon physiology, Electric Conductivity drug effects, Electrophysiology, In Vitro Techniques, Intercellular Junctions drug effects, Intercellular Junctions physiology, Intestinal Absorption drug effects, Male, Rats, Sodium metabolism, Aldosterone pharmacology, Colon drug effects
- Abstract
Regulation of the paracellular pathway in rabbit distal colon by the hormone aldosterone was investigated in vitro in Ussing chambers by means of transepithelial and microelectrode techniques. To evaluate the cellular and paracellular resistances an equivalent circuit analysis was used. For the analysis the apical membrane resistance was altered using the antibiotic nystatin. Under control conditions two groups of epithelia were found, each clearly dependent on the light: dark regime. Low-transporting epithelia (LT) were observed in the morning and high-transporting epithelia (HT) in the afternoon. Na+ transport was about 3-fold higher in HT than in LT epithelia. Incubating epithelia of both groups with 0.1 mumol.l-1 aldosterone on the serosal side nearly doubled in LT epithelia the short circuit current and transepithelial voltage but the transepithelial resistance was not influenced. Maximal values were reached after 4-5 h of aldosterone treatment. In HT epithelia due to the effect of aldosterone all three transepithelial parameters remained constant over time. Evaluation of the paracellular resistance revealed a significant increase after aldosterone stimulation in both epithelial groups. This increase suggests that tight junctions might have been regulated by aldosterone. The hormonal effect on electrolyte transport was also dependent on the physiological state of the rabbit colon. Since net Na+ absorption in distal colon is, in addition to transcellular absorption capacity, also dependent on the permeability of the paracellular pathway, the regulation of tight junctions by aldosterone may be a potent mechanism for improving Na+ absorption during hormone-stimulated ion transport.
- Published
- 1990
- Full Text
- View/download PDF
182. [Quantitative studies on the comparability of neurohistological results in rat cortical pyramids produced by different Golgi methods (author's transl)].
- Author
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Schierhorn VH, Doedenes K, and Nagel I
- Subjects
- Animals, Dendrites physiology, Male, Methods, Pyramidal Tracts anatomy & histology, Rats, Somatosensory Cortex anatomy & histology
- Abstract
By the spine distribution and the spine density of layer V pyramids in albino rat sensorimotor cortex the following GOLGI methods are compared with together quantitatively: GOLGI-KOPSCH, GOLGI-BUBENAITE, GOLGI-Rapid by Virktorov and GOLGI-COX by Ramón-Moliner. Whereas the Kopsch, Bubenaite and Ramón-Moliner impregnations obtain the same results in all signs examined here (with the exception of a higher number of dendritic spines in the first 50 microgram of apical dendrites using the Ramón-Moliner procedure), the GOLGI-Rapid method diverges considerably from the other GOLGI procedures. Using the GOLGI-Rapid method remarkable fewer spines are impregnated. So the results of GOLGI-Rapid cannot be compared with the other GOLGI procedures events.
- Published
- 1977
183. [Ontogenesis of the spine-free initial zone of apical dendrites; studies in cortical pyramidal cells of albino rat].
- Author
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Doedens, Schierhorn H, and Nagel I
- Subjects
- Age Factors, Animals, Biometry, Dendrites, Male, Mathematics, Movement, Sexual Maturation, Cerebral Cortex growth & development, Limbic System growth & development, Neurons cytology, Rats anatomy & histology, Somatosensory Cortex growth & development
- Abstract
1. In Golgi-Cox-impregnated coronal sections of albino rat brains at 1, 4, 26, 24, 30, 60 and 90 days it is presented the evolution of the spine-less, bare initial zone ("nude zone", NZ) at the proximal apical main dendrites of the layer V pyramidal neurons in the somatosensory and anterior limbie cortex. The quantitative results are analyzed by statistical methods. 2. The NZ is comprehended as a morphological correlate of the endodendritic neuroplasmic flow (Weiss 1944, Globus, Lux and Schuberl 1968, Kreutzberg 1973). The observed changes of the percental frequency and the average length of NZ increases rapidly. 3. The NZ occurs at first in the (12th) 16 postnatal day, thus in a time, when the organs of hearing and the eyes are differentiated completely. Between 16th and 24th day the percental frequency as well as the longitude of NZ increases. During this time the rats will be independent of the mother animals. With the full differentiation of the urogenital tract and especially with the sexual maturity the percentage frequency of NZ increases only at pyramidal cells in the anterior limbie cortex between 24th and 60th day. During 3rd month the NZ is occuring percental more frequently in the anterior limbic cortex than in the somatosensory cortex. At this time the average length of NZ is shorter in the limbic cortex. 4. As to the enriched, vivid movement of the animals and the playing impulse of the young rats the average length of NZ will be extended at pyramidal neurons in the somatosensory cortex during 2nd month, as well as the pattern of spine distribution will be changed along apical dendrites (Schlerhorn, unpublished). During the following (3rd) month the NZ will be shorteded in the somatosensory cortex, obviously caused by new formation of spines at the proximal main dendrites. 5. These newly formed spines in the initial zone of apical dendrites may be inhibitory spines. The inhibitory spines are stained only when using the mercury chromate impregnation according to Golgi-Cox, but not when using the silver chromate methods according to Golgi-Kopsch or Golgi-Bubenaite. The different tingibility of these spines by different Golgi techniques is discussed by Doedens, Nagel and Schierhorn (1974). The pyramidal neurons in the somatosensory cortex possess a longer average length of NZ (Lnz = 7,3[mum]) than the pyramidal cells in the anterior limbic cortex (Lnz = 6.2[mum]). As to NZ the differences between silver and mercury chromate stained pyramidal neurons are greater in the somatosensory cortex than in limbic cortex (see Tab. 7). Therefore we assume that there are in the initial zone of somatosensory pyramidal neurons more inhibitory spines than at the pyramidal neurons in the anterior limbic cortex. 6. The regional differences in the percentual frequency and in the average length of NZ between somatosensory and limbic cortex are new identifying marks of architectonic differentiation of the pyramidal neurons in cortical regions of phylogenetically different ages.
- Published
- 1975
184. Protein abnormalities in Huntington's chorea.
- Author
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Iqbal K, Tellez-Nagel I, and Grundke-Iqbal I
- Subjects
- Brain pathology, Cell Nucleus analysis, Electrophoresis, Disc, Histocytochemistry, Humans, Molecular Weight, Neurons analysis, Ribosomes analysis, Sodium Dodecyl Sulfate, Brain Chemistry, Huntington Disease metabolism, Nerve Tissue Proteins isolation & purification
- Published
- 1974
- Full Text
- View/download PDF
185. Studies on brain biopsies of patients with Huntington's chorea.
- Author
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Tellez-Nagel I, Johnson AB, and Terry RD
- Subjects
- Acid Phosphatase metabolism, Adenosine Triphosphatases metabolism, Adult, Age Factors, Aged, Biopsy, Brain Chemistry, Capillaries pathology, Cytoplasmic Granules, Endoplasmic Reticulum, Female, Frontal Lobe enzymology, Frontal Lobe metabolism, Gliosis, Glycerolphosphate Dehydrogenase metabolism, Golgi Apparatus, Humans, Huntington Disease enzymology, Huntington Disease metabolism, Macrophages, Male, Microscopy, Electron, Microscopy, Fluorescence, Middle Aged, NADH, NADPH Oxidoreductases metabolism, Neuroglia, Succinate Dehydrogenase metabolism, Frontal Lobe pathology, Huntington Disease pathology, Lipid Metabolism, Pigments, Biological metabolism
- Published
- 1974
- Full Text
- View/download PDF
186. An ultrastructural study of chronic sodium cyanate-indiuced neuropathy.
- Author
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Tellez-Nagel I, Korthals JK, Vlassara HV, and Cerami A
- Subjects
- Animals, Cyanates administration & dosage, Diet, Microscopy, Electron, Myelin Sheath pathology, Myelin Sheath ultrastructure, Peripheral Nervous System Diseases chemically induced, Phagocytosis, Rats, Sciatic Nerve pathology, Sciatic Nerve ultrastructure, Spinal Nerve Roots pathology, Spinal Nerve Roots ultrastructure, Time Factors, Cyanates adverse effects, Disease Models, Animal, Peripheral Nervous System Diseases pathology
- Abstract
Fifteen rats were given a sodium cyanate-rich diet for 18 months and at the end of that period, all of them had developed motor weakness and were perfused for ultrastructural study. A peripheral neuropathy involving mostly the roots and sciatic nerves was found and the main ultrastructural lesion was vacuolization of myelin. There was marked distinction of the myelin sheaths and phagocytosis of myelin. Axoplasmic changes were minimal and consisted of accumulation of glycogen within vacuoles. Invaginations of adaxonal Schwann cell membranes and axolemma forming loops and separate chambers were also present. There was active participation of macrophages in the splitting of myelin as well as in phagocytosis of myelin remnants. There was evidence of remyelination with the toxic damage. We concluded that cyanate induced neuropathy is due mostly to a myelinotoxic effect of the drug, although parallel but less intense axonal damage cannot be excluded.
- Published
- 1977
187. Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy.
- Author
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Tellez-Nagel I, Rapin I, Iwamoto T, Johnson AB, Norton WT, and Nitowsky H
- Subjects
- Cerebral Cortex ultrastructure, Child, Conjunctiva ultrastructure, Cornea ultrastructure, Fibroblasts ultrastructure, Humans, Inclusion Bodies ultrastructure, Male, Neurons ultrastructure, Oligodendroglia ultrastructure, Mucolipidoses metabolism, Mucolipidoses pathology
- Abstract
A 7-year-old Ashkenazi Jewish boy with normal early development started to regress at 8 months of age and made no further developmental progress. Corneal clouding was noted at age 10 months. Corneal and conjunctival biopsy at 14 months, cerebral biopsy at 24 months, and fibroblast cultures at 32 months showed lysosomal inclusions, suggesting the storage of lipid-like and mucopolysaccharide-like material. In the brain, dense fluorescent inclusions resembled those in ceroid-lipofuscinosis. Total ganglioside content of white matter was raised, but the pattern was normal. The level of nonlipid hexosamine in the brain was normal. The cornea and conjunctiva contained electronlucent vacuoles resembling those in the mucopolysaccharidoses. Cornea, brain, and lymphocytes contained concentric membranous lamellar structures reminiscent of those in the gangliosidoses. The clinical picture and ultrastructural findings support the impression that this case belongs to a new variant of the mucolipidoses, mucolipidosis IV.
- Published
- 1976
- Full Text
- View/download PDF
188. [Nomographical determination of brain wet weight of small mammals (albino rats) from weight of brain fixed in different ways].
- Author
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Nagel I and Schierhorn H
- Subjects
- Animals, Histological Techniques, Organ Size, Rats, Brain anatomy & histology
- Abstract
Some nomograms have been designed, based upon albino rat brains, which are fixated by several liquids (Bouin, Carnoy, formaldehyde, Golgi-Cox according to Ramon-Moliner). These nomograms allow to determine the weight of fresh unfixated brains (HFG) in a simplified manner, if it was possible only to determine the weight of fixated brains (HT) by weighing.
- Published
- 1975
189. [Low T3 syndrome and chronic inflammatory rheumatism].
- Author
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Herrmann F, Hambsch K, Sorger D, Häntzschel H, Müller P, and Nagel I
- Subjects
- Adult, Anti-Inflammatory Agents administration & dosage, Anti-Inflammatory Agents, Non-Steroidal adverse effects, Arthritis, Rheumatoid blood, Euthyroid Sick Syndromes blood, Female, Humans, Lupus Erythematosus, Systemic blood, Male, Prednisolone adverse effects, Thyroid Hormones blood, Anti-Inflammatory Agents adverse effects, Arthritis, Rheumatoid drug therapy, Euthyroid Sick Syndromes chemically induced, Lupus Erythematosus, Systemic drug therapy, Thyroid Function Tests
- Abstract
For the clarification of pathogenesis and clinical relevance of decreases of the triiodothyronine (T3) level in patients with chronic inflammatory rheumatism in a group of 63 patients with clinically, paraclinically and roentgenologically diagnosed rheumatoid arthritis (59 times) and with SLE (4 times), respectively, parallel were determined parameters of the thyroid gland function and of the rheumatic activity as well as a subtile drug anamnesis for the medication of antirheumatic drugs was established. In 33 of the 63 patients who were included into the study decreases and low normal values, respectively, for the total T3 (TT3 less than 1.5 nmol/l) were found. In comparison to the remaining 30 patients with normal TT3 a typical constellation of paraclinical parameters of the thyroid gland with distinct reduction of TT3 and free T3 (FT3), low normal total T4 (TT4), slight increase of the reverse T3 (rT3), moderate decrease of the basal and stimulated TSH and an only very small restriction of the binding capacity of the thyroid hormone (TBG) were found. A clinically relevant hypothyroidism is thus to be excluded with certainty. Antirheumatic drugs, in particular steroidal ones (glucocorticoids) may on principle also induce such paraclinical constellations, related to the thyroid gland. In our investigations a therapy with antirheumatic drugs is causally scarcely considered, since both in the group of patients with decrease of T3 and without decrease comparable quantities of antirheumatic drugs including glucocorticoids were administered and the cortisol values in the plasma do not differ. The investigations confirm our already formerly expressed supposition that also in rheumatics a "low-T3-syndrome" is existing as it is otherwise described in consumptive extrathyroidal diseases (NTI).(ABSTRACT TRUNCATED AT 250 WORDS)
- Published
- 1989
190. [Qualitative comparison of the results of different Golgi technics in adult albino rat neocortex].
- Author
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Schierhorn H and Nagel I
- Subjects
- Animals, Dendrites, Histological Techniques, Rats, Cerebral Cortex cytology, Neurons cytology, Staining and Labeling methods
- Published
- 1977
191. The binding of hemoglobin to membranes of normal and sickle erythrocytes.
- Author
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Fischer S, Nagel RL, Bookchin RM, Roth EF Jr, and Tellez-Nagel I
- Subjects
- Cell Membrane ultrastructure, Dithiothreitol pharmacology, Hemoglobin, Sickle metabolism, Humans, Hydrogen-Ion Concentration, Mechlorethamine, Osmolar Concentration, Protein Binding, Temperature, Anemia, Sickle Cell blood, Cell Membrane metabolism, Erythrocytes metabolism, Hemoglobins metabolism
- Abstract
The binding of hemoglobins A, S, and A2 to red cell membranes prepared by hypotonic lysis from normal blood and blood from persons with sickle cell anemia was quantified under a variety of conditions using hemoglobin labelled by alkylation with 14C-labelled Nitrogen Mustard. Membrane morphology was examined by electron microscopy. Normal membranes were found capable of binding native hemoglobin A and hemoglobin S in similar amounts when incubated at low hemoglobin: membrane ratios, but at high ratios hemoglobin saturation levels of the membranes increased progressively for hemoglobin A, hemoglobin S and hemoglobin A2, respectively, in order of increasing electropositivity. Binding was unaffected by variations in temperature (4-22 degrees C) and altered little by the presence of sulfhydryl reagents, but was inhibited at pH levels above 7.35; disrupted at high ionic strength; and dependent on the ionic composition of the media. These findings suggest that electrostatic, but not hydrophobic or sulfhydryl bonds are important in membrane binding of the hemoglobin under the conditions studied. An increased retention of hemoglobin in preparations of membranes from red cells of patients with sickle cell anemia (homozygote S) was attributable to the dense fraction of homozygote S red cells rich in irreversibly sickled cells, and the latter membranes had a smaller residual binding capacity for new hemoglobin. This suggests that in homozygote S cells which have become irreversibly sickled cells in vivo, there are membrane changes which involve alteration and/or blockade of hemoglobin binding sites. These findings support the notion that hemoglobin participates in the dynamic structure of the red cell membrane in a manner which differs in normal and pathological states.
- Published
- 1975
- Full Text
- View/download PDF
192. [Epidermal ball cells of the Ascaphus truei Stejneger (Amphibia, Salientia, Ascaphidae) larva: a biometric contribution].
- Author
-
Meyer M, Fröhlich J, and Nagel I
- Subjects
- Animals, Biometry, Larva anatomy & histology, Amphibians anatomy & histology, Skin cytology
- Abstract
1. With regard to orientation the in the larva of Ascaphus truei characteristic excretory special cell (mucosa cell) was analysed in plain preparations of epidermis from head-trune in four test regions - praeoral, postoral, craniodorsal and post spiracle -, the speciman (stage 32 according to Gosner 1960) being investigated was excellently fixed, 50 cells at times biometrically are used therefore. The element with adequate safety must be called ball cell because of its shape. 2. Elements only praeoral present a more little volume dividing from other average (and more unimportant occurence of an outlet). In respect of frequency distribution of different big ball cells in whole material significant differences are missed. A definite size of volume independent of region is prefered. 3. In 69% of all ball cells being considered there is an outlet, the existence is not fixed to a definite volume of cell. Shape of opening in 88% is round to a little ellipsoidal, its size is reaching to 10% more than half of maximal flat plain of cells; with regard to regions differences are absent. 4. In 3 regions thereupon being investigated (postoral, craniodorsal and post spiracle) a real correlation exists between height of single ball cells and thickness of epidermis.
- Published
- 1975
193. [Quantitative histological studies of the variability of Golgi-impregnated cortical neurons in rats and cats].
- Author
-
Schierhorn H and Nagel I
- Subjects
- Age Factors, Animals, Dendrites anatomy & histology, Male, Cats anatomy & histology, Cerebral Cortex anatomy & histology, Neurons anatomy & histology, Rats anatomy & histology
- Abstract
Quantitative GOLGI-studies are executed about the layer V pyramidal neurons of the albino rat and the cat sensorimotor cortex. To this the length LP of the perikarya, the lenth LAD of the apical main dendrites, the spine-densities (spine-dendrite-quotients) DQ and the length NZ of the spineless ("nude") initial zone of the apical dendrites are measured in several male animals descending of the same litters. The neuronal signs are compared within the specimens of the same age. There are no statistical significant differences (level: 0,05) between these neuronal signs in all specimens of the same age and species. Relating to the examined marks of the cortical pyramids it is allowed to decline the hypothesis of variability between animals (rats or cats respectively) of the same age and sex. By this it is legal and sufficient to examine only one specimen (animal) for each stage of age in histological researches of ontogenetic series. This specimen is representative to this stage of evolution.
- Published
- 1975
194. [Therapy of cough].
- Author
-
NAGEL I
- Subjects
- Humans, Cough therapy, Plants
- Published
- 1954
195. Subacute sclerosing leukoencephalitis. Clinical and ultrastructural studies.
- Author
-
Golden GS and Tellez-Nagel I
- Subjects
- Child, Diffuse Cerebral Sclerosis of Schilder etiology, Humans, Male, Microscopy, Electron, Brain pathology, Diffuse Cerebral Sclerosis of Schilder pathology
- Published
- 1968
196. Isolation of neurons and glial cells from normal and pathological human brains.
- Author
-
Iqbal K and Tellez-Nagel I
- Subjects
- Adult, Animals, Cell Count, Dementia pathology, Humans, Huntington Disease pathology, Infant, Newborn, Methods, Microscopy, Phase-Contrast, Rats, Brain pathology, Central Nervous System Diseases pathology, Neuroglia, Neurons
- Published
- 1972
- Full Text
- View/download PDF
197. [Laminar coordination of apical dendrite spines of lamina V pyramidal cells in the sensorimotor cortex of the albino rat].
- Author
-
Schierhorn H, Doedens K, and Nagel I
- Subjects
- Animals, Dendrites, Male, Motor Cortex cytology, Somatosensory Cortex cytology, Cerebral Cortex cytology, Rats anatomy & histology
- Published
- 1972
198. [Spine distribution in the apical dendrites of giant pyramidal cells (lamina V) in sensorimotor and limbic cortex of the rat].
- Author
-
Schierhorn H, von Bossányi P, Nagel I, and Weber T
- Subjects
- Animals, Dendrites, Limbic System cytology, Male, Motor Cortex cytology, Neurons cytology, Rats, Inbred Strains, Somatosensory Cortex cytology, Cerebral Cortex cytology, Rats anatomy & histology
- Published
- 1973
199. Protein and RNA metabolism of squid axons (Dosidicus gigas).
- Author
-
Fischer S, Cellino M, Gariglio P, and Tellez-Nagel I
- Subjects
- Adenosine Triphosphate analysis, Amino Acids metabolism, Animals, Carbon Isotopes, Centrifugation, Density Gradient, Dactinomycin pharmacology, Microscopy, Electron, Mollusca metabolism, NAD analysis, Ouabain pharmacology, Tritium, Uridine metabolism, Axons metabolism, Cell Membrane metabolism, Proteins metabolism, RNA metabolism
- Published
- 1968
200. Ultrastructure of neurofibrillary tangles in Steele-Richardson-Olszewski syndrome.
- Author
-
Tellez-Nagel I and Wiśniewski HM
- Subjects
- Aged, Autopsy, Bulbar Palsy, Progressive pathology, Cytoplasmic Granules, Humans, Male, Demyelinating Diseases pathology, Neurofibrils, Ophthalmoplegia pathology, Substantia Nigra pathology, Thalamus pathology
- Published
- 1973
- Full Text
- View/download PDF
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